Kantor R, Barzilai A, Varon D, Martinowitz U, Gershoni J M
Department of Internal Medicine E, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
J Hum Virol. 1998 May-Jun;1(4):299-301.
The recently discovered connection of chemokines and their receptors to HIV pathogenesis, and the description of the 32-bp deletion in the CCR5 gene (delta 32 CCR5), led to heightened excitement and numerous reports regarding their role in HIV transmission and disease progression. The populations in most of these reports, except for one, consisted of homosexual men. Our objective was to investigate the significance of delta 32 CCR5 in hemophilia patients in Israel.
STUDY DESIGN/METHODS: We have determined by polymerase chain reaction (PCR) the prevalence of delta 32 CCR5 in 34 HIV-seropositive Israeli patients with hemophilia A and compared them with a control group of 42 HIV-seronegative hemophilia patients.
Thirteen heterozygotes were identified among the 76 hemophilia patients tested (allelic frequency, 8.5%), 5 (14.7%) among the HIV-seropositive patients, and 8 (19%) among the noninfected.
No protective advantage to delta 32 CCR5 heterozygosity was seen as far as infection with HIV is concerned. However, a trend of a slower progression to AIDS in delta 32 CCR5 heterozygotes compared with wild-type homozygotes may be apparent, although no absolute correlation could be made.
近期发现趋化因子及其受体与HIV发病机制之间存在联系，以及CCR5基因中32碱基对缺失（δ32 CCR5）的相关描述，引发了人们对其在HIV传播和疾病进展中作用的高度关注及大量报道。除一份报告外，这些报告中的研究对象大多为男同性恋者。我们的目的是研究δ32 CCR5在以色列血友病患者中的意义。
研究设计/方法：我们通过聚合酶链反应（PCR）测定了34名以色列HIV血清阳性A型血友病患者中δ32 CCR5的患病率，并将他们与42名HIV血清阴性血友病患者的对照组进行比较。
在76名接受检测的血友病患者中，鉴定出13名杂合子（等位基因频率为8.5%），其中HIV血清阳性患者中有5名（14.7%），未感染患者中有8名（19%）。
就感染HIV而言，未发现δ32 CCR5杂合性具有保护优势。然而，与野生型纯合子相比，δ32 CCR5杂合子向艾滋病进展较慢的趋势可能较为明显，尽管无法得出绝对的相关性。
